Learn More
OBJECTIVES To evaluate the clinical response to Tocilizumab (TCZ) in three patients with non-infectious uveitis refractory to anti-TNF-α drugs. METHODS Assessment of TCZ-treated patients with immune-mediated uveitis from two Spanish medical referral centers. Uveitis had been refractory to previous standard synthetic immunosuppressive drugs and at least(More)
OBJECTIVES The aim of this paper is to assess the clinical response to golimumab (GLM) in patients with non-infectious uveitis from a single centre that had previously been treated with other anti-TNF-α drugs. METHODS A retrospective chart review was carried out of patients with immune-mediated uveitis refractory to standard synthetic immunosuppressive(More)
Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior(More)
OBJECTIVE Endogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22(More)
OBJECTIVE STAT4 and IL23R loci represent common susceptibility genetic factors in autoimmunity. We decided to investigate for the first time the possible role of different STAT4/IL23R autoimmune disease-associated polymorphisms on the susceptibility to develop non-anterior uveitis and its main clinical phenotypes. METHODS Four functional polymorphisms(More)
This study was undertaken to investigate the possible genetic association of functional CTLA4 polymorphisms with susceptibility to non-anterior uveitis. Four hundred and seventeen patients with endogenous non-anterior uveitis and 1517 healthy controls of Spanish Caucasian origin were genotyped for the CTLA4 polymorphisms rs733618, rs5742909 and rs231775,(More)
OBJECTIVE Interferon (IFN) signaling plays a crucial role in autoimmunity. Genetic variation in interferon regulatory factor 5 (IRF5), a major regulator of the type I interferon induction, has been associated with risk of developing several autoimmune diseases. In the current study we aimed to evaluate whether three sets of correlated IRF5 genetic variants,(More)
The authors report of two familial cases of Ludo Van Boggert cerebro-tendinous xanthomatosis. Biochemical studies carried out in one of the patients confirmed the work of Salen indicating that the disorder is due to an enzyme problem in the hepatic synthesis of primary bile acids from cholesterol (fault in the production and cholic and chenodesoxycholic(More)